Cellosaurus cell line CJD6 (CVCL

Cross-references
Cell line name	CJD6
Accession	CVCL_D3BU
Resource Identification Initiative	To cite this cell line use: CJD6 (RRID:CVCL_D3BU)
Comments	From: Center for Regenerative Medicine; Boston; USA. Population: Jewish; Libyan. Donor information: Asymptomatic for Creutzfeldt-Jakob disease. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Met129Val (c.385A>G); ClinVar=VCV000013397; Zygosity=Heterozygous (PubMed=39332406). Mutation; HGNC; HGNC:9449; PRNP; Simple; p.Glu200Lys (c.598G>A); ClinVar=VCV000013398; Zygosity=Heterozygous (PubMed=39332406).
Disease	Creutzfeldt-Jakob disease (NCIt: C26802) Inherited Creutzfeldt-Jakob disease (ORDO: Orphanet_282166)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	62Y
Category	Induced pluripotent stem cell
Web pages	Provider; CReM; 685; https://stemcellbank.bu.edu/Catalog/Item/Details/685
Publications	PubMed=39332406; DOI=10.1016/j.stemcr.2024.08.010; PMCID=PMC11561462 Aldana Daniela Gojanovich, Nhat T.T. Le, Robert C.C. Mercer, Seonmi Park, Bei Wu, Alice Anane, Janelle S. Vultaggio, Gustavo Mostoslavsky, David A. Harris; Abnormal synaptic architecture in iPSC-derived neurons from a multi-generational family with genetic Creutzfeldt-Jakob disease. Stem Cell Reports 19:1474-1488(2024)
Encyclopedic resources	Wikidata; Q127380570
Entry history
Entry creation	30-Jan-2024
Last entry update	14-Aug-2025
Version number	5